Miyagawa Shinji, Mukai Taiji, Yaguchi Hiroshi
Department of Neurology, The Jikei University Kashiwa Hospital.
Rinsho Shinkeigaku. 2018 Nov 28;58(11):673-676. doi: 10.5692/clinicalneurol.cn-001197. Epub 2018 Oct 27.
We report the case of a 43-year-old female patient who presented with symptoms of abnormal behavior, hearing loss, ataxic gait, central hyperventilation which had appeared over the course of one month. Brain MRI showed no abnormal findings in DWI and EEG did not indicate periodic synchronous discharge (PSD). Over the course of the same month, she also presented with central apnea that intermittently showed spontaneous improvement and reappearance. Cerebrospinal fluid 14-3-3 protein tested negative and there was no family history, but an abnormal prion protein was detected in the cerebrospinal fluid by the RT-QUIC assay. We diagnosed her with familial Creutzfeldt-Jakob disease (CJD) with an E200K mutation after genetic examination. Both high cortical signals on MRI and PSD on EEG were not recognized even in the advanced stage. Central apnea was presumed to be caused by disorders of the respiratory center of the brainstem. Hearing loss was also considered to be an obstacle at the brainstem level from the latency delay after the III wave in auditory brainstem response (ABR). The possibility of brain stem symptoms occurring in the early stages of CJD should be considered.
我们报告了一例43岁女性患者的病例，该患者在一个月内出现了异常行为、听力丧失、共济失调步态、中枢性通气过度等症状。脑部MRI在弥散加权成像（DWI）上未显示异常发现，脑电图（EEG）也未提示周期性同步放电（PSD）。在同一个月内，她还出现了中枢性呼吸暂停，间歇性地表现出自发性改善和复发。脑脊液14-3-3蛋白检测为阴性，且无家族史，但通过实时震颤诱导转化（RT-QUIC）检测在脑脊液中检测到异常朊蛋白。基因检测后，我们诊断她患有伴有E200K突变的家族性克雅氏病（CJD）。即使在疾病晚期，MRI上的高皮质信号和EEG上的PSD也未被识别。中枢性呼吸暂停被推测是由脑干呼吸中枢紊乱引起的。从听觉脑干反应（ABR）中III波后的潜伏期延迟来看，听力丧失也被认为是脑干水平的一个障碍。应考虑CJD早期出现脑干症状的可能性。
